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P37058 (DHB3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 145. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Testosterone 17-beta-dehydrogenase 3

EC=1.1.1.64
Alternative name(s):
17-beta-hydroxysteroid dehydrogenase type 3
Short name=17-beta-HSD 3
Testicular 17-beta-hydroxysteroid dehydrogenase
Gene names
Name:HSD17B3
Synonyms:EDH17B3
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length310 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Favors the reduction of androstenedione to testosterone. Uses NADPH while the two other EDH17B enzymes use NADH.

Catalytic activity

Testosterone + NADP+ = androst-4-ene-3,17-dione + NADPH.

Pathway

Hormone biosynthesis; testosterone biosynthesis.

Tissue specificity

Testis.

Involvement in disease

Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]: These individuals have unambiguous female external genitalia at birth, but fail to menstruate at the time of expected puberty and instead virilize as evidenced by growth of the phallus. Breast development may or may not take place.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.4 Ref.5 Ref.6 Ref.7

Sequence similarities

Belongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 310310Testosterone 17-beta-dehydrogenase 3
PRO_0000054573

Regions

Nucleotide binding48 – 7730NADP By similarity

Sites

Active site1981Proton acceptor By similarity
Binding site1851Substrate By similarity

Natural variations

Natural variant311V → I. Ref.2
Corresponds to variant rs2066480 [ dbSNP | Ensembl ].
VAR_014870
Natural variant561A → T in MPH; Cambridge-2. Affects NADPH cofactor binding. Ref.6
VAR_016067
Natural variant651S → L in MPH. Ref.4
VAR_016068
Natural variant801R → Q in MPH; Gaza. Ref.1
VAR_006953
Natural variant801R → W in MPH. Ref.5
VAR_006954
Natural variant1301N → S in MPH; Cambridge-1. Complete loss of activity. Ref.6
VAR_016069
Natural variant1761Q → P in MPH. Ref.4
VAR_016070
Natural variant2031A → V in MPH. Ref.1
VAR_006955
Natural variant2051V → E in MPH. Ref.4
VAR_016071
Natural variant2081F → I in MPH. Ref.4
VAR_016072
Natural variant2151E → D in MPH. Ref.4
VAR_016203
Natural variant2321S → L in MPH. Ref.1
Corresponds to variant rs28939085 [ dbSNP | Ensembl ].
VAR_006956
Natural variant2351M → V in MPH. Ref.1
VAR_006957
Natural variant2681C → Y in MPH; complete loss of activity. Ref.7
VAR_016073
Natural variant2821P → L in MPH. Ref.4
VAR_016074
Natural variant2891G → C.
Corresponds to variant rs2066479 [ dbSNP | Ensembl ].
VAR_061844
Natural variant2891G → R.
Corresponds to variant rs2066479 [ dbSNP | Ensembl ].
VAR_061845
Natural variant2891G → S. Ref.2 Ref.6
Corresponds to variant rs2066479 [ dbSNP | Ensembl ].
VAR_014871

Sequences

Sequence LengthMass (Da)Tools
P37058 [UniParc].

Last modified November 1, 1995. Version 2.
Checksum: 0643FF35ED979185

FASTA31034,516
        10         20         30         40         50         60 
MGDVLEQFFI LTGLLVCLAC LAKCVRFSRC VLLNYWKVLP KSFLRSMGQW AVITGAGDGI 

        70         80         90        100        110        120 
GKAYSFELAK RGLNVVLISR TLEKLEAIAT EIERTTGRSV KIIQADFTKD DIYEHIKEKL 

       130        140        150        160        170        180 
AGLEIGILVN NVGMLPNLLP SHFLNAPDEI QSLIHCNITS VVKMTQLILK HMESRQKGLI 

       190        200        210        220        230        240 
LNISSGIALF PWPLYSMYSA SKAFVCAFSK ALQEEYKAKE VIIQVLTPYA VSTAMTKYLN 

       250        260        270        280        290        300 
TNVITKTADE FVKESLNYVT IGGETCGCLA HEILAGFLSL IPAWAFYSGA FQRLLLTHYV 

       310 
AYLKLNTKVR 

« Hide

References

« Hide 'large scale' references
[1]"Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3."
Geissler W.M., Davis D.L., Wu L., Bradshaw K.D., Patel S., Mendonca B.B., Elliston K.O., Wilson J.D., Russell D.W., Andersson S.
Nat. Genet. 7:34-39(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS MPH GLN-80; VAL-203; LEU-232 AND VAL-235.
Tissue: Testis.
[2]NIEHS SNPs program
Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ILE-31 AND SER-289.
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
Tissue: Brain.
[4]"Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency."
Andersson S., Geissler W.M., Wu L., Davis D.L., Grumbach M.M., New M.I., Schwarz H.P., Blethen S.L., Mendonca B.B., Bloise W., Witchel S.F., Cutler G.B. Jr., Griffin J.E., Wilson J.D., Russel D.W.
J. Clin. Endocrinol. Metab. 81:130-136(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MPH LEU-65; PRO-176; GLU-205; ILE-208; ASP-215 AND LEU-282.
[5]"A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism."
Bilbao J.R., Loridan L., Audi L., Gonzalo E., Castano L.
Eur. J. Endocrinol. 139:330-333(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MPH TRP-80.
[6]"Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3)."
Moghrabi N., Hughes I.A., Dunaif A., Andersson S.
J. Clin. Endocrinol. Metab. 83:2855-2860(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MPH THR-56 AND SER-130, VARIANT SER-289.
[7]"Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency."
Lindqvist A., Hughes I.A., Andersson S.
J. Clin. Endocrinol. Metab. 86:921-923(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MPH TYR-268.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U05659 mRNA. Translation: AAC50066.1.
AY341031 Genomic DNA. Translation: AAP88937.1.
BC034281 mRNA. Translation: AAH34281.1.
CCDSCCDS6716.1.
PIRS43928.
RefSeqNP_000188.1. NM_000197.1.
UniGeneHs.477.

3D structure databases

ProteinModelPortalP37058.
SMRP37058. Positions 48-228.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

IntActP37058. 1 interaction.
STRING9606.ENSP00000364412.

Chemistry

BindingDBP37058.
ChEMBLCHEMBL4234.
DrugBankDB00157. NADH.

PTM databases

PhosphoSiteP37058.

Polymorphism databases

DMDM1169300.

Proteomic databases

PaxDbP37058.
PRIDEP37058.

Protocols and materials databases

DNASU3293.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000375263; ENSP00000364412; ENSG00000130948.
GeneID3293.
KEGGhsa:3293.
UCSCuc004awa.1. human.

Organism-specific databases

CTD3293.
GeneCardsGC09M098998.
HGNCHGNC:5212. HSD17B3.
HPAHPA015307.
MIM264300. phenotype.
605573. gene.
neXtProtNX_P37058.
Orphanet752. 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency.
PharmGKBPA29480.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0300.
HOGENOMHOG000039237.
HOVERGENHBG005478.
InParanoidP37058.
KOK10207.
OMACLACLAK.
OrthoDBEOG7CZK63.
PhylomeDBP37058.
TreeFamTF314591.

Enzyme and pathway databases

BioCycMetaCyc:HS05461-MONOMER.
ReactomeREACT_111217. Metabolism.
REACT_15493. Steroid hormones.
UniPathwayUPA00367.

Gene expression databases

ArrayExpressP37058.
BgeeP37058.
CleanExHS_HSD17B3.
GenevestigatorP37058.

Family and domain databases

Gene3D3.40.50.720. 1 hit.
InterProIPR002198. DH_sc/Rdtase_SDR.
IPR002347. Glc/ribitol_DH.
IPR016040. NAD(P)-bd_dom.
IPR020904. Sc_DH/Rdtase_CS.
[Graphical view]
PfamPF00106. adh_short. 1 hit.
[Graphical view]
PIRSFPIRSF000126. 11-beta-HSD1. 1 hit.
PRINTSPR00081. GDHRDH.
PR00080. SDRFAMILY.
PROSITEPS00061. ADH_SHORT. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiHSD17B3_(gene).
GenomeRNAi3293.
NextBio13063.
PROP37058.
SOURCESearch...

Entry information

Entry nameDHB3_HUMAN
AccessionPrimary (citable) accession number: P37058
Entry history
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: November 1, 1995
Last modified: July 9, 2014
This is version 145 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PATHWAY comments

Index of metabolic and biosynthesis pathways

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM